Variant #0000654590 (NC_000002.11:g.233704576G>C, KCNJ13(NM_002242.4):c.-63438C>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.233704576G>C
DNA change (hg38) g.232839866G>C
Published as GIGYF2(NM_015575.3):c.2784G>C (p.T928=)
ISCN -
DB-ID GIGYF2_000051
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00051 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -?/. - c.2784G>C r.(?) p.(Thr928=)
KCNJ13 NM_002242.4 -?/. - c.-63438C>G r.(?) p.(=)